Mutagenetix > Incidental Mutation

Incidental Mutation 'R1950:Ccdc73'

217175

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R1950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104926935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 81 (I81T)

Ref Sequence

ENSEMBL: ENSMUSP00000106743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111114] [ENSMUST00000127840] [ENSMUST00000151764]

AlphaFold

Q8CDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000111114
AA Change: I81T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: I81T

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:CCDC73	27	1061	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127840
AA Change: I81T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: I81T

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
coiled coil region	48	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151764
AA Change: I81T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: I81T

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
coiled coil region	48	134	N/A	INTRINSIC
coiled coil region	178	381	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 3,960,677	N478S	probably damaging	Het
Als2	T	A	1: 59,185,601		probably null	Het
Ankfy1	A	G	11: 72,760,329	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 122,889,869	T2394A	probably damaging	Het
Axin1	G	C	17: 26,193,964	G780R	possibly damaging	Het
Carm1	A	T	9: 21,574,516	T127S	probably benign	Het
Cdh12	T	C	15: 21,237,879	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,907,660	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,427,430		probably null	Het
Chit1	A	G	1: 134,151,230	Y426C	probably damaging	Het
Clpp	A	G	17: 56,996,039		probably benign	Het
Clrn3	T	G	7: 135,514,084	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,769	M635R	probably damaging	Het
Col12a1	A	T	9: 79,630,549	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 60,896,049	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674	I154F	probably benign	Het
Cyhr1	A	G	15: 76,659,217		probably null	Het
Dffa	C	A	4: 149,104,382	S44R	probably benign	Het
Ehbp1	T	A	11: 22,059,228	K930M	probably damaging	Het
Erc2	T	A	14: 27,912,900	S473T	probably damaging	Het
Fam71f1	C	T	6: 29,335,816		probably null	Het
Fbxw24	A	T	9: 109,605,413	L373H	probably benign	Het
Fer1l4	T	C	2: 156,048,274	I244V	probably damaging	Het
Fgfr2	G	A	7: 130,198,481	T245M	probably damaging	Het
Gbp9	T	A	5: 105,081,246	M512L	probably benign	Het
Glg1	T	A	8: 111,165,639	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,100,420	D86G	possibly damaging	Het
Gm10767	A	G	13: 66,907,205		probably benign	Het
Gm5622	T	C	14: 51,655,772	V52A	probably benign	Het
Gucy1b1	A	G	3: 82,045,409	V239A	probably benign	Het
Gzma	A	G	13: 113,093,929	L246P	probably damaging	Het
Hibadh	C	A	6: 52,556,463	A223S	probably benign	Het
Hydin	C	A	8: 110,609,987	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,814,513	N1198S	probably damaging	Het
Ivl	T	C	3: 92,572,113	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,239,922	D2037G	possibly damaging	Het
Kcna3	G	A	3: 107,037,672	C417Y	probably damaging	Het
Klra2	T	C	6: 131,230,115	N177S	probably benign	Het
Llgl2	T	C	11: 115,851,066	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,273,831	E230G	probably benign	Het
Magel2	C	A	7: 62,378,415	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,345,989	V368A	probably benign	Het
Myh8	G	A	11: 67,279,004	V50M	possibly damaging	Het
Myrf	A	T	19: 10,218,190	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Olfr1330	G	A	4: 118,893,340	V86M	probably benign	Het
Olfr556	A	G	7: 102,670,477	M186V	probably benign	Het
Otud4	G	A	8: 79,646,332	R93H	probably damaging	Het
Pank4	T	A	4: 154,972,520	M390K	probably benign	Het
Pecam1	A	G	11: 106,685,203	V401A	probably damaging	Het
Prdm6	C	A	18: 53,536,724	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Prpf8	A	G	11: 75,496,511	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,197,941	I395N	probably benign	Het
Rab27a	G	A	9: 73,075,469	G19R	probably damaging	Het
Rrp12	A	G	19: 41,892,590	V134A	probably damaging	Het
Scly	A	G	1: 91,305,394	T76A	probably benign	Het
Scube3	T	C	17: 28,164,300	S439P	possibly damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,341,459	F153S	probably damaging	Het
Slc25a30	T	G	14: 75,769,567	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,644,640	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Smr2	C	CT	5: 88,108,826		probably null	Het
Sp6	T	G	11: 97,022,114	S218A	probably benign	Het
Spata21	T	C	4: 141,111,405	V589A	probably damaging	Het
Sycp2	T	C	2: 178,402,800	I71V	probably benign	Het
Syne2	G	T	12: 75,952,870	G2347C	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,769,571	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,807,626	D216G	probably damaging	Het
Tprg	T	A	16: 25,317,348	S30T	possibly damaging	Het
Trip12	A	T	1: 84,760,801	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633	L65P	probably damaging	Het
Ush2a	A	T	1: 188,755,185	N3050I	probably damaging	Het
Xpot	T	C	10: 121,619,148	I30V	probably benign	Het
Zfp944	A	G	17: 22,339,700	S189P	probably benign	Het

Other mutations in Ccdc73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Ccdc73	APN	2	104994591	missense	probably damaging	1.00
IGL01313:Ccdc73	APN	2	104907627	missense	probably benign	0.00
IGL02016:Ccdc73	APN	2	104975616	missense	probably benign	0.05
IGL02179:Ccdc73	APN	2	104907568	missense	probably damaging	0.99
FR4304:Ccdc73	UTSW	2	104991840	unclassified	probably benign
FR4737:Ccdc73	UTSW	2	104991840	unclassified	probably benign
IGL03052:Ccdc73	UTSW	2	104951936	missense	possibly damaging	0.78
R0010:Ccdc73	UTSW	2	104980987	splice site	probably benign
R0040:Ccdc73	UTSW	2	104992084	missense	probably damaging	1.00
R0052:Ccdc73	UTSW	2	104929570	splice site	probably benign
R0360:Ccdc73	UTSW	2	104981007	missense	probably damaging	1.00
R0401:Ccdc73	UTSW	2	104991289	missense	probably benign	0.01
R0715:Ccdc73	UTSW	2	104973154	splice site	probably benign
R0839:Ccdc73	UTSW	2	104991097	missense	probably benign	0.05
R1129:Ccdc73	UTSW	2	104992190	missense	possibly damaging	0.51
R1240:Ccdc73	UTSW	2	104991561	missense	probably benign	0.05
R1478:Ccdc73	UTSW	2	104907610	missense	possibly damaging	0.72
R1478:Ccdc73	UTSW	2	104914667	missense	possibly damaging	0.93
R1695:Ccdc73	UTSW	2	104992105	missense	probably damaging	1.00
R1924:Ccdc73	UTSW	2	104992292	missense	probably damaging	1.00
R1987:Ccdc73	UTSW	2	104931045	nonsense	probably null
R1987:Ccdc73	UTSW	2	104999159	missense	probably damaging	1.00
R2938:Ccdc73	UTSW	2	104975635	nonsense	probably null
R3420:Ccdc73	UTSW	2	104951947	missense	probably null	1.00
R3420:Ccdc73	UTSW	2	104951948	splice site	probably null
R3422:Ccdc73	UTSW	2	104951947	missense	probably null	1.00
R3422:Ccdc73	UTSW	2	104951948	splice site	probably null
R3522:Ccdc73	UTSW	2	104991485	missense	probably damaging	1.00
R3886:Ccdc73	UTSW	2	104991343	missense	possibly damaging	0.94
R4279:Ccdc73	UTSW	2	104985010	missense	possibly damaging	0.87
R4791:Ccdc73	UTSW	2	104981105	splice site	probably null
R4793:Ccdc73	UTSW	2	105017782	splice site	probably null
R4939:Ccdc73	UTSW	2	104992157	splice site	probably null
R4950:Ccdc73	UTSW	2	104992366	missense	probably benign
R5093:Ccdc73	UTSW	2	105017766	utr 3 prime	probably benign
R5150:Ccdc73	UTSW	2	104992039	missense	probably benign	0.00
R5381:Ccdc73	UTSW	2	104989925	missense	probably damaging	1.00
R5738:Ccdc73	UTSW	2	104930986	missense	possibly damaging	0.78
R6148:Ccdc73	UTSW	2	104992137	missense	possibly damaging	0.58
R6269:Ccdc73	UTSW	2	104907633	missense	probably damaging	1.00
R6738:Ccdc73	UTSW	2	104992088	missense	probably benign	0.00
R6753:Ccdc73	UTSW	2	104991524	nonsense	probably null
R7062:Ccdc73	UTSW	2	104951878	missense	probably damaging	1.00
R7110:Ccdc73	UTSW	2	104973224	missense	probably benign	0.21
R7320:Ccdc73	UTSW	2	104999176	missense	possibly damaging	0.47
R7436:Ccdc73	UTSW	2	104951869	missense	probably damaging	1.00
R7530:Ccdc73	UTSW	2	104994570	missense
R7747:Ccdc73	UTSW	2	104929556	missense	probably damaging	1.00
R7952:Ccdc73	UTSW	2	104945456	critical splice donor site	probably null
R8178:Ccdc73	UTSW	2	104991212	missense	probably benign	0.00
R8824:Ccdc73	UTSW	2	104991877	missense	possibly damaging	0.74
R8927:Ccdc73	UTSW	2	104992197	missense
R8928:Ccdc73	UTSW	2	104992197	missense
R8945:Ccdc73	UTSW	2	104991367	missense	probably benign	0.03
R9365:Ccdc73	UTSW	2	104907666	missense	probably damaging	1.00
Z1177:Ccdc73	UTSW	2	104992239	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTCTATCACAGAGGTCAGAAG -3'
(R):5'- TCCATACTACCATGAGTTAGAAGG -3'

Sequencing Primer
(F):5'- GTCCTCTGTAAGAGCACCAAGTG -3'
(R):5'- GTGTGTTCAGATAATAGTTTGTC -3'

Posted On

2014-08-01